A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5918266



Internal ID22693487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:112766913..112770221hg38UCSC Ensembl
chr8:113779142..113782450hg19UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg383309
hg193309
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17441547
Samples
Known GenesCSMD3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5918266
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer